Tricuspid regurgitation (TR) is commonly seen in surgically palliated patients with hypoplastic left heart syndrome, and when significant, is associated with an increase in both morbidity and ...mortality. Tricuspid valve dysfunction appears to be the result of a combination of inherent structural malformations and the unique physiological circumstances resulting from right ventricular pressure and volume overload. Valve dysfunction evolves rapidly, and manifests early on in the surgical pathway. Whilst traditional echocardiographic imaging can identify anatomical defects and dysfunction resulting in varying degrees of regurgitation even at early stages, more sophisticated investigations such as 3D echocardiography, strain imaging and transesophageal 3DE might prove useful to better demonstrate the complex interactions between abnormal anatomy of the valve complex, ventricular function, mechanical synchrony, and TR. Recognition of specific mechanisms of TR can enhance patient-specific care by directing precise surgical interventions and by informing the best timing for intervention on the valve.
Abstract
Aims
Understanding the spectrum of disease, symptom burden and natural history are essential for the management of children with hypertrophic cardiomyopathy (HCM). The effect of changing ...screening practices over time has not previously been studied. This study describes the clinical characteristics and outcomes of childhood HCM over four decades in a well-characterized United Kingdom cohort.
Methods and results
Six hundred and eighty-seven patients with HCM presented at a median age of 5.2 years (range 0–16). Aetiology was: non-syndromic (n = 433, 63%), RASopathy (n = 126, 18.3%), Friedreich’s ataxia (n = 59, 8.6%) or inborn errors of metabolism (IEM) (n = 64, 9%). In infants (n = 159, 23%) underlying aetiology was more commonly a RASopathy (42% vs. 11.2%, P < 0.0001) or IEM (18.9% vs. 6.4% P < 0.0001). In those with familial disease, median age of presentation was higher (11 years vs. 6 years, P < 0.0001), 141 (58%) presented <12 years. Freedom from death or transplantation was 90.6% (87.9–92.7%) at 5 years (1.5 per 100 patient years) with no era effect. Mortality was most frequently sudden cardiac death (SCD) (n = 20, 2.9%). Children diagnosed during infancy or with an IEM had a worse prognosis (5-year survival 80.5% or 66.4%). Arrhythmic events occurred at a rate of 1.2 per 100 patient years and were more likely in non-syndromic patients (n = 51, 88%).
Conclusion
This national study describes a heterogeneous disease whose outcomes depend on the age of presentation and aetiology. Overall mortality and SCD rates have not changed over time, but they remain higher than in adults with HCM, with events occurring in syndromic and non-syndromic patients.
Abstract
Aims
Sudden cardiac death (SCD) is the most common cause of death in children with hypertrophic cardiomyopathy (HCM). The European Society of Cardiology (ESC) recommends consideration of an ...implantable cardioverter-defibrillator (ICD) if two or more clinical risk factors (RFs) are present, but this approach to risk stratification has not been formally validated.
Methods and results
Four hundred and eleven paediatric HCM patients were assessed for four clinical RFs in accordance with current ESC recommendations: severe left ventricular hypertrophy, unexplained syncope, non-sustained ventricular tachycardia, and family history of SCD. The primary endpoint was a composite outcome of SCD or an equivalent event (aborted cardiac arrest, appropriate ICD therapy, or sustained ventricular tachycardia), defined as a major arrhythmic cardiac event (MACE). Over a follow-up period of 2890 patient years (median 5.5 years), MACE occurred in 21 patients (7.5%) with 0 RFs, 19 (16.8%) with 1 RFs, and 3 (18.8%) with 2 or more RFs. Corresponding incidence rates were 1.13 95% confidence interval (CI) 0.7–1.73, 2.07 (95% CI 1.25–3.23), and 2.52 (95% CI 0.53–7.35) per 100 patient years at risk. Patients with two or more RFs did not have a higher incidence of MACE (log-rank test P = 0.34), with a positive and negative predictive value of 19% and 90%, respectively. The C-statistic was 0.62 (95% CI 0.52–0.72) at 5 years.
Conclusions
The incidence of MACE is higher for patients with increasing numbers of clinical RFs. However, the current ESC guidelines have a low ability to discriminate between high- and low-risk individuals.
Paediatric Multisystem Inflammatory Syndrome temporally associated with SARS-CoV-2 (PIMS-TS), first identified in April 2020, shares features of both Kawasaki disease (KD) and toxic shock syndrome ...(TSS). The surveillance describes the epidemiology and clinical characteristics of PIMS-TS in the United Kingdom and Ireland.
Public Health England initiated prospective national surveillance of PIMS-TS through the British Paediatric Surveillance Unit. Paediatricians were contacted monthly to report PIMS-TS, KD and TSS cases electronically and complete a detailed clinical questionnaire. Cases with symptom onset between 01 March and 15 June 2020 were included.
There were 216 cases with features of PIMS-TS alone, 13 with features of both PIMS-TS and KD, 28 with features of PIMS-TS and TSS and 11 with features of PIMS-TS, KD and TSS, with differences in age, ethnicity, clinical presentation and disease severity between the phenotypic groups. There was a strong geographical and temporal association between SARS-CoV-2 infection rates and PIMS-TS cases. Of those tested, 14.8% (39/264) children had a positive SARS-CoV-2 RT-PCR, and 63.6% (75/118) were positive for SARS-CoV-2 antibodies. In total 44·0% (118/268) required intensive care, which was more common in cases with a TSS phenotype. Three of five children with cardiac arrest had TSS phenotype. Three children (1·1%) died.
The strong association between SARS-CoV-2 infection and PIMS-TS emphasises the importance of maintaining low community infection rates to reduce the risk of this rare but severe complication in children and adolescents. Close follow-up will be important to monitor long-term complications in children with PIMS-TS.
PHE.
Right ventricular (RV) dysfunction and tricuspid regurgitation (TR) are associated with adverse outcome in hypoplastic left heart syndrome (HLHS) but remain poorly understood. The aim of this study ...was to assess RV longitudinal strain and mechanical dyssynchrony in HLHS in relation to TR. The hypothesis was that inhomogeneous RV contraction and mechanical dyssynchrony around the tricuspid valve apparatus may be associated with TR in some patients with HLHS.
Echocardiograms of children aged 0 to 2 years with HLHS at all stages of surgical palliation were retrospectively reviewed for anatomic subtype and severity of TR. RV peak strain and dyssynchrony were assessed by vector velocity imaging.
Sixty echocardiograms of patients with a median age of 0.54 years (interquartile range, 0.04-1.63 years) and a median weight 6.40 kg (interquartile range, 3.70-10.45 kg) demonstrated TR, which was absent or trivial in 25 (42%), mild in 20 (33%), moderate in five (8%), and severe in 10 (17%). The difference in peak longitudinal strain between the RV free wall and the septum or left-sided RV wall was significantly higher in patients with moderate or severe TR compared with no, trivial, or mild TR (2.93 ± 6.03% vs 0.16 ± 6.6%, P = .04). The difference in time to peak longitudinal strain between walls was significantly longer in moderate or severe TR compared with no, trivial, or mild TR (57.4 ± 145.1 vs 15.8 ± 75.9 msec, P = .04). There was a significant difference in anatomic subtype between patients with the most difference in peak strain compared with those with the least.
RV mechanical dyssynchrony and inhomogeneous contraction are worse in patients with clinically important TR and HLHS.
Clinical signs alone are unreliable in the diagnosis of patent ductus arteriosus (PDA) in preterm infants, and therefore echocardiography remains the mainstay of diagnosis of this common condition. ...Echocardiography also facilitates understanding of the hemodynamic effects of a PDA, and thus aids in management decisions. Several echocardiographic parameters, including duct size, maximum ductal velocity, left atrial: aorta ratio, mitral inflow E:A ratio, and isovolumic relaxation time, have been utilized in the assessment of PDA, but no single measurement can be used in isolation to inform clinical judgement. Therefore, it is important that echocardiographers on the neonatal unit have a comprehensive understanding of available methods and their limitations. Newer echocardiographic techniques, such as 3 Dimensional echocardiography, tissue Doppler imaging and strain imaging, are now providing insights into myocardial function in the adaptation of preterm infants to extra-uterine life, and into the effects of a PDA causing systemic-to-pulmonary artery shunting. Magnetic resonance imaging delivers excellent diagnostic information and accurate hemodynamic evaluation; however this modality is not easily accessible for most preterm infants, in comparison to echocardiography, which is readily available at the cotside in most neonatal units. Further developments in echocardiography may further refine the contribution it makes to individualized clinical decisionmaking in the management of premature infants with PDA.
Aims
Children presenting with hypertrophic cardiomyopathy (HCM) in infancy are reported to have a poor prognosis, but this heterogeneous group has not been systematically characterized. This study ...aimed to describe the aetiology, phenotype, and outcomes of infantile HCM in a well‐characterized multicentre European cohort.
Methods and results
Of 301 children diagnosed with infantile HCM between 1987 and 2019 presenting to 17 European centres male n = 187 (62.1%), underlying aetiology was non‐syndromic (n = 138, 45.6%), RASopathy (n = 101, 33.6%), or inborn error of metabolism (IEM) (n = 49, 16.3%). The most common reasons for presentation were symptoms (n = 77, 29.3%), which were more prevalent in those with syndromic disease (n = 62, 61.4%, P < 0.001), and an isolated murmur (n = 75, 28.5%). One hundred and sixty‐one (53.5%) had one or more co‐morbidities. Genetic testing was performed in 163 (54.2%) patients, with a disease‐causing variant identified in 115 (70.6%). Over median follow‐up of 4.1 years, 50 (16.6%) underwent one or more surgical interventions; 15 (5.0%) had an arrhythmic event (6 in the first year of life); and 48 (15.9%) died, with an overall 5 year survival of 85%. Predictors of all‐cause mortality were an underlying diagnosis of IEM hazard ratio (HR) 4.4, P = 0.070, cardiac symptoms (HR 3.2, P = 0.005), and impaired left ventricular systolic function (HR 3.0, P = 0.028).
Conclusions
This large, multicentre study of infantile HCM describes a complex cohort of patients with a diverse phenotypic spectrum and clinical course. Although overall outcomes were poor, this was largely related to underlying aetiology emphasizing the importance of comprehensive aetiological investigations, including genetic testing, in infantile HCM.
Good communication is central to good healthcare. As a result of poor communication between parents and healthcare professionals (HCPs) in clinical settings, this study aimed to address this problem ...by developing a communication tool to empower parents and act as a prompt for HCPs to talk about the child’s care and gather information at the point of admission to hospital about what is important to families, therefore supporting patient-centered communication. A design thinking process was used to develop a physical copy of Chloe’s card and evaluate its use. Design thinking is a problem-solving approach, which uses an empathetic lens to integrate viewpoints of different stakeholders throughout the process of creating solutions. Design thinking involves five processes: (1) empathise—including a literature review and data synthesis, (2) define—by completing semi-structured interviews with parents about their experience of communication and HCPs perceptions of parent’s experience of communication, (3) ideate—iterate the design of Chloe’s card with parents and HCPs, (4) prototype—develop the design of Chloe’s card, and (5) test—pilot test in clinical practice. Results from this initial study suggest that a small hand-held card, with emoticons and a place to write concerns, was acceptable to parents and feasible to use in clinical practice. Parents do not always feel heard by HCPs and a tool such as Chloe’s card may help facilitate sharing of information about matters important to them and their child. However, some HCPs felt the need for a communication tool undermined their clinical skills. Feedback from HCP participants suggests that the idea of Chloe’s card was acceptable and perceived as potentially being useful in clinical practice. Further work is required, as part of a larger study, to further refine this communication tool, identify those parents who would benefit most from Chloe’s card, as well as to further refine the HCP process prior to implementing it into clinical settings. It was noted future iterations would benefit from a digital version linked with a child’s electronic record, as well as multi-language versions and information for parents.
Aims
This study aimed to describe the natural history and predictors of all‐cause mortality and sudden cardiac death (SCD)/equivalent events in children with a RASopathy syndrome and hypertrophic ...cardiomyopathy (HCM).
Methods and results
This is a retrospective cohort study from 14 paediatric cardiology centres in the United Kingdom and Ireland. We included children <18 years with HCM and a clinical and/or genetic diagnosis of a RASopathy syndrome Noonan syndrome (NS), NS with multiple lentigines (NSML), Costello syndrome (CS), cardiofaciocutaneous syndrome (CFCS), and NS with loose anagen hair (NS‐LAH). One hundred forty‐nine patients were recruited 111 (74.5%) NS, 12 (8.05%) NSML, 6 (4.03%) CS, 6 (4.03%) CFCS, 11 (7.4%) Noonan‐like syndrome, and 3 (2%) NS‐LAH. NSML patients had higher left ventricular outflow tract (LVOT) gradient values 60 (36–80) mmHg, P = 0.004. Over a median follow‐up of 197.5 inter‐quartile range (IQR) 93.58–370 months, 23 patients (15.43%) died at a median age of 24.1 (IQR 5.6–175.9) months. Survival was 96.45% 95% confidence interval (CI) 91.69–98.51, 90.42% (95% CI 84.04–94.33), and 84.12% (95% CI 75.42–89.94) at 1, 5, and 10 years, respectively, but this varied by RASopathy syndrome. RASopathy syndrome, symptoms at baseline, congestive cardiac failure (CCF), non‐sustained ventricular tachycardia (NSVT), and maximal left ventricular wall thickness were identified as predictors of all‐cause mortality on univariate analysis, and CCF, NSVT, and LVOT gradient were predictors for SCD or equivalent event.
Conclusions
These findings highlight a distinct category of patients with Noonan‐like syndrome with a milder HCM phenotype but significantly worse survival and identify potential predictors of adverse outcome in patients with RASopathy‐related HCM.
The multifactorial mechanisms of tricuspid valve (TV) insufficiency in patients with hypoplastic left heart syndrome (HLHS) include structural anomalies of TV leaflets and ventricular dilatation. We ...hypothesized that 2-D echocardiography underestimates the importance of TV structural abnormalities, whereas surgical assessment underestimates the importance of motion abnormalities, and compared echocardiographic assessment with surgical description.
Two independent experts retrospectively reviewed echocardiograms of all patients who had staged single-ventricular palliation and TV repair during January 1998-December 2008, and compared with case-matched controls who did not require TV repair. Primary and secondary mechanisms of TV insufficiency were categorized, and surgical findings ascertained from operation records. There were 32 patients with a median age of 5.9 months (0.3-140) and 32 matched controls. On echocardiographic review, an abnormality of at least one leaflet was noted in every patient (100%) vs. in only 14 controls 14 (44%) (P < 0.001). Leaflet prolapse was described in 22 (69%), and the restriction of a leaflet in 20 (69%). Agreement between the experts was excellent (κ = 0.64-0.88). On surgical inspection, annular dilatation was found in 17 (53%), and leaflet dysplasia in 14 (44%). Agreement between echocardiographic and surgical assessment was poor (κ < 0.6).
Important structural abnormalities are common in patients with HLHS and TV insufficiency, some readily identified by 2-D echocardiography. However, there are significant discrepancies between echocardiographic and surgical findings. Echocardiographic assessment is sensitive to detect leaflet motion abnormalities, but not leaflet structural abnormalities. Both echocardiographers and surgeons should be aware of these limitations when planning surgical interventions.
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